{
    "disease_id": "DOID:0111068",
    "recommended_name": {
        "id": "DOID:0111068",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111068",
        "name": "congenital bile acid synthesis defect 4",
        "description": "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111068",
            "name": "CBAS4",
            "description": ""
        },
        {
            "id": "DOID:0111068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111068",
            "name": "trihydroxycoprostanic acid in bile",
            "description": ""
        },
        {
            "id": "DOID:0111068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111068",
            "name": "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "congenital bile acid synthesis defect 4",
            "description": "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease."
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "AMACR deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "2-methylacyl-CoA racemase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "Alpha-methyl-acyl-CoA racemase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "BAS defect type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "BASD4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "CBAS4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "bile acid synthesis defect, congenital, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "congenital bile acid synthesis defect 4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "congenital bile acid synthesis defect type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "Trihydroxycoprostanic acid to cholic acid",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "bile acid synthesis defect, congenital, 4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "cholestasis, intrahepatic, with defective conversion of",
            "description": ""
        },
        {
            "id": "MIM:214950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214950",
            "name": "Congenital bile acid synthesis defect 4",
            "description": "Congenital bile acid synthesis defect 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111068"
    ],
    "unlinked_id_list": []
}